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A frequent oligogenic involvement in congenital hypothyroidism.
de Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, Marelli F, Bonomi M, Cassio A, Larizza D, Moro M, Radetti G, Salerno M, Ardissino D, Weber G, Gentilini D, Guizzardi F, Duga S, Persani L. de Filippis T, et al. Among authors: bonomi m. Hum Mol Genet. 2017 Jul 1;26(13):2507-2514. doi: 10.1093/hmg/ddx145. Hum Mol Genet. 2017. PMID: 28444304 Free article.
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P, Persani L, Calebiro D, Bonomi M, Mannavola D, Campi I. Beck-Peccoz P, et al. Among authors: bonomi m. Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):529-46. doi: 10.1016/j.beem.2006.11.001. Best Pract Res Clin Endocrinol Metab. 2006. PMID: 17161330 Review.
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L, Calebiro D, Cordella D, Weber G, Gelmini G, Libri D, de Filippis T, Bonomi M. Persani L, et al. Among authors: bonomi m. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):72-82. doi: 10.1016/j.mce.2010.01.008. Epub 2010 Jan 18. Mol Cell Endocrinol. 2010. PMID: 20083154 Review.
Syndromes of resistance to TSH.
Persani L, Gelmini G, Marelli F, Beck-Peccoz P, Bonomi M. Persani L, et al. Among authors: bonomi m. Ann Endocrinol (Paris). 2011 Apr;72(2):60-3. doi: 10.1016/j.ando.2011.03.007. Epub 2011 Apr 21. Ann Endocrinol (Paris). 2011. PMID: 21513912 Review.
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
Calebiro D, Gelmini G, Cordella D, Bonomi M, Winkler F, Biebermann H, de Marco A, Marelli F, Libri DV, Antonica F, Vigone MC, Cappa M, Mian C, Sartorio A, Beck-Peccoz P, Radetti G, Weber G, Persani L. Calebiro D, et al. Among authors: bonomi m. J Clin Endocrinol Metab. 2012 Jan;97(1):E156-60. doi: 10.1210/jc.2011-1938. Epub 2011 Nov 2. J Clin Endocrinol Metab. 2012. PMID: 22049173
New understandings of the genetic basis of isolated idiopathic central hypogonadism.
Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L; Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes. Bonomi M, et al. Asian J Androl. 2012 Jan;14(1):49-56. doi: 10.1038/aja.2011.68. Epub 2011 Dec 5. Asian J Androl. 2012. PMID: 22138902 Free PMC article. Review.
285 results